Apert syndrome is a rare genetic disorder present from birth, characterized by the premature fusion of skull bones (craniosynostosis) and webbing of fingers and toes (syndactyly). This early fusion changes head and facial shape, often leading to a prominent forehead, sunken midface, bulging eyes, and sometimes breathing/feeding issues, requiring extensive surgical correction and therapies, though intelligence can be normal.
what is the life expectancy of someone with Apert? Even though surgeries may often be in their future, individuals with Apert can have a typical life span. (There are incidences of children with severe heart issues that may affect their life span.)
The gene is called FGFR2 (fibroblast growth factor receptor 2). Most often the condition is caused by a new genetic change that was not inherited from a parent. Other times, a parent passes the FGFR2 gene variant to a child. The risk of having a child with Apert syndrome is higher if the father is older.
Apert syndrome should be diagnosed in the second trimester. This condition may be suspected in low-risk patients when fetal examination reveals abnormal skull shape or contour, especially when 3D imaging is used. Diagnosis confirmation is based on molecular analysis of amniotic fluid.
This is because children born with Apert Syndrome have a much higher risk of speech, language and feeding problems than children in the general population. Currently, only supraregional craniofacial units in the UK have specialist speech and language therapists with this dedicated caseload.
Most children with Apert syndrome are of normal intelligence but mild learning difficulty occurs in some cases. Physical characteristics of this syndrome include: tall skull and high prominent forehead. underdeveloped upper jaw.
Children with Apert syndrome also typically display:
Since Apert syndrome is a genetic condition, there is nothing parents can do to prevent it from occurring during pregnancy. If you are planning on becoming pregnant, talk with your healthcare provider about genetic testing to see if you are at risk of passing certain genes onto your child.
The First Trimester Test is performed between 10 and 13 completed weeks of pregnancy to screen for Down syndrome - this test is not used to screen for open neural tube defects. It combines information from an ultrasound examination of your baby with maternal blood analysis. It is suitable for women of all ages.
Syndactyly occurs when toes or fingers don't separate as they should while a baby forms in the womb. The most common type — simple syndactyly — occurs when skin and soft tissue connect the digits. Treatment for syndactyly includes surgery to separate the webbed toes or fingers.
Of the people with Down syndrome in the United States: 67% are non-Hispanic and White, 13% non-Hispanic and Black, 16% Hispanic, 3% Asian or Pacific Islander, and 1% American Indian or American Native.
As the father grows older, the number of mutations in the father's genome increases, leading to an increase in the incidence of congenital malformations in offspring [11, 65]. Older paternal age may be harmful to the offspring's health in terms of genetic mutations, telomere length, and epigenetics [66].
Midfacial hypoplasia: Crouzon syndrome can cause the bones of the jaw, cheeks, eyes and ears to grow abnormally. This may cause issues with vision, hearing and breathing. Babies with midfacial hypoplasia are usually identified by their bulging eyes and jaw underbite.
Surgical treatment
The earliest skull surgery is frequently done in the first 18 months of life. Midface surgery: The most common surgery for moving the bones of the midface forward in Apert syndrome is called a LeFort III operation. This surgery is typically not done before your child is 6-8 years of age.
In this scenario, there are three possible outcomes. There is a 25% chance that the child will inherit the non-dwarfism gene from each parent, resulting in a child of average height. There's a 50% chance that the child will inherit one dwarfism gene, just like their parents, and thus will be born with achondroplasia.
Some patients may experience varying degrees of hearing loss. They may also experience intellectual disabilities that range from mild to severe. However, others are able to develop normal intellectual abilities.
Family Planning
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The mental age is rarely over 8 years old, although a few cases of normal Intelligence Quotient (IQ) in children with DS have Page 2 Cognitive development and adaptive functions in children with Down syndrome at different developmental stages 85 been reported 4.
According to the World Health Organization, the highest prevalence of Down syndrome is reported in countries such as Ireland, Israel, and Turkey. In contrast, countries like Japan and South Africa report a lower incidence of Down syndrome.
Cleft palate repairs are usually done between the ages of 9 to 18 months, but before the age of 2. This is a more complicated surgery and is done when the baby is bigger and better able to tolerate the surgery. The exact timing of the surgery will be decided by your child's physician.
Most Apert Syndrome cases occur sporadically as a result of a new mutation (instead of being passed down from a parent). Although studies have noticed a higher occurrence in children with older fathers, this condition can occur in children born to parents of all ages.
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About 10 to 40 percent of children with syndactyly inherit the condition from a parent. In some cases, the condition is part of genetic syndrome, such as Poland syndrome or Apert syndrome.